Analysis of SOD1 Variants in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.

H Li, L Yuan, H Yang,Y Guo, W Zheng,K Fan,S Deng, L Gong, H Xu, Z Yang, J Cheng, M Kang,H Deng

QJM : monthly journal of the Association of Physicians（2023）

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摘要

This study identified three SOD1 variants in three families with FALS. The variant SOD1 toxicity was associated with oxidative damage and aggregation, and N-acetylcysteine could rescue the decreased cell viability induced by these variants. Our findings support a pathogenic role for ROS in SOD1 deficiencies, and provide a potential drug N-acetylcysteine for ALS therapy, especially in SOD1-patients with limb onset.

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关键词

SOD1 ,amyotrophic lateral sclerosis,gene variant,reactive oxygen species,whole-exome sequencing

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